Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1184
Gene name	Chloride voltage-gated channel 5
Gene symbol	CLCN5
Synonyms (NCBI Gene)	CLC5CLCK2ClC-5DENT1DENTSNPHL1NPHL2XLRHXRNhCIC-K2
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gen

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SNP ID	Visualize variation	Clinical significance	Consequence
rs151340620	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs151340621	C>A,T	Pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs151340622	T>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340623	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340624	C>T	Pathogenic, uncertain-significance	Stop gained, genic downstream transcript variant, coding sequence variant
rs151340625	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340626	C>T	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340627	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs151340628	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340629	G>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs151340630	G>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs273585644	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585645	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585646	C>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585647	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585648	G>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585649	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs273585650	T>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs797044808	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044809	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044810	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044811	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044812	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs797044813	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044814	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs797044815	TGTTAAAGCATATAGCACAGATG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1049618423	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1131691487	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1131691678	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1557192084	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1557194018	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1557194090	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1557194353	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1557194719	TGAC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569540047	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569540051	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569540369	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569540382	G>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569540502	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569540520	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602123307	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

426

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030774	hsa-miR-21-5p	Microarray	18591254
MIRT479205	hsa-miR-302f	PAR-CLIP	20371350
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT479203	hsa-miR-940	PAR-CLIP	20371350
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT479197	hsa-miR-1827	PAR-CLIP	20371350
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT479193	hsa-miR-711	PAR-CLIP	20371350
MIRT479192	hsa-miR-3612	PAR-CLIP	20371350
MIRT479191	hsa-miR-650	PAR-CLIP	20371350
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT479188	hsa-miR-1273e	PAR-CLIP	20371350
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	20371350
MIRT479186	hsa-miR-4535	PAR-CLIP	20371350
MIRT479205	hsa-miR-302f	PAR-CLIP	20371350
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT479203	hsa-miR-940	PAR-CLIP	20371350
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT479197	hsa-miR-1827	PAR-CLIP	20371350
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT479193	hsa-miR-711	PAR-CLIP	20371350
MIRT479192	hsa-miR-3612	PAR-CLIP	20371350
MIRT479191	hsa-miR-650	PAR-CLIP	20371350
MIRT479188	hsa-miR-1273e	PAR-CLIP	20371350
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	20371350
MIRT479186	hsa-miR-4535	PAR-CLIP	20371350
MIRT479205	hsa-miR-302f	PAR-CLIP	23446348
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT479203	hsa-miR-940	PAR-CLIP	23446348
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	23446348
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	23446348
MIRT479199	hsa-miR-4649-3p	PAR-CLIP	23446348
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT479197	hsa-miR-1827	PAR-CLIP	23446348
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	23446348
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	23446348
MIRT479193	hsa-miR-711	PAR-CLIP	23446348
MIRT479192	hsa-miR-3612	PAR-CLIP	23446348
MIRT479191	hsa-miR-650	PAR-CLIP	23446348
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT479188	hsa-miR-1273e	PAR-CLIP	23446348
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	23446348
MIRT479186	hsa-miR-4535	PAR-CLIP	23446348
MIRT479205	hsa-miR-302f	PAR-CLIP	23592263
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT479203	hsa-miR-940	PAR-CLIP	23592263
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT479199	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT479197	hsa-miR-1827	PAR-CLIP	23592263
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT479193	hsa-miR-711	PAR-CLIP	23592263
MIRT479192	hsa-miR-3612	PAR-CLIP	23592263
MIRT479191	hsa-miR-650	PAR-CLIP	23592263
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT479188	hsa-miR-1273e	PAR-CLIP	23592263
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	23592263
MIRT479186	hsa-miR-4535	PAR-CLIP	23592263
MIRT479205	hsa-miR-302f	PAR-CLIP	20371350
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT479203	hsa-miR-940	PAR-CLIP	20371350
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT479197	hsa-miR-1827	PAR-CLIP	20371350
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT479193	hsa-miR-711	PAR-CLIP	20371350
MIRT479192	hsa-miR-3612	PAR-CLIP	20371350
MIRT479191	hsa-miR-650	PAR-CLIP	20371350
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT479188	hsa-miR-1273e	PAR-CLIP	20371350
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	20371350
MIRT479186	hsa-miR-4535	PAR-CLIP	20371350
MIRT479205	hsa-miR-302f	PAR-CLIP	20371350
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT479203	hsa-miR-940	PAR-CLIP	20371350
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT479197	hsa-miR-1827	PAR-CLIP	20371350
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT479193	hsa-miR-711	PAR-CLIP	20371350
MIRT479192	hsa-miR-3612	PAR-CLIP	20371350
MIRT479191	hsa-miR-650	PAR-CLIP	20371350
MIRT479188	hsa-miR-1273e	PAR-CLIP	20371350
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	20371350
MIRT479186	hsa-miR-4535	PAR-CLIP	20371350
MIRT479205	hsa-miR-302f	PAR-CLIP	23446348
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT479203	hsa-miR-940	PAR-CLIP	23446348
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	23446348
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	23446348
MIRT479199	hsa-miR-4649-3p	PAR-CLIP	23446348
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT479197	hsa-miR-1827	PAR-CLIP	23446348
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	23446348
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	23446348
MIRT479193	hsa-miR-711	PAR-CLIP	23446348
MIRT479192	hsa-miR-3612	PAR-CLIP	23446348
MIRT479191	hsa-miR-650	PAR-CLIP	23446348
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT479188	hsa-miR-1273e	PAR-CLIP	23446348
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	23446348
MIRT479186	hsa-miR-4535	PAR-CLIP	23446348
MIRT479205	hsa-miR-302f	PAR-CLIP	23592263
MIRT479204	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT479202	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT479203	hsa-miR-940	PAR-CLIP	23592263
MIRT479201	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT479200	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT479199	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT479198	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT479197	hsa-miR-1827	PAR-CLIP	23592263
MIRT479196	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT479195	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT479194	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT479193	hsa-miR-711	PAR-CLIP	23592263
MIRT479192	hsa-miR-3612	PAR-CLIP	23592263
MIRT479191	hsa-miR-650	PAR-CLIP	23592263
MIRT479190	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT479189	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT479188	hsa-miR-1273e	PAR-CLIP	23592263
MIRT479187	hsa-miR-4776-5p	PAR-CLIP	23592263
MIRT479186	hsa-miR-4535	PAR-CLIP	23592263
MIRT894615	hsa-miR-103a	CLIP-seq
MIRT894616	hsa-miR-107	CLIP-seq
MIRT894617	hsa-miR-125a-3p	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT894619	hsa-miR-15a	CLIP-seq
MIRT894620	hsa-miR-15b	CLIP-seq
MIRT894621	hsa-miR-16	CLIP-seq
MIRT894622	hsa-miR-195	CLIP-seq
MIRT894623	hsa-miR-29a	CLIP-seq
MIRT894624	hsa-miR-29b	CLIP-seq
MIRT894625	hsa-miR-29c	CLIP-seq
MIRT894626	hsa-miR-3180-5p	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894628	hsa-miR-323-5p	CLIP-seq
MIRT894629	hsa-miR-330-3p	CLIP-seq
MIRT894630	hsa-miR-3545-3p	CLIP-seq
MIRT894631	hsa-miR-3622b-5p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894633	hsa-miR-424	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT894635	hsa-miR-4310	CLIP-seq
MIRT894636	hsa-miR-4422	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT894638	hsa-miR-497	CLIP-seq
MIRT894639	hsa-miR-520a-5p	CLIP-seq
MIRT894640	hsa-miR-525-5p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894642	hsa-miR-552	CLIP-seq
MIRT894643	hsa-miR-606	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT894645	hsa-miR-767-5p	CLIP-seq
MIRT894646	hsa-miR-876-3p	CLIP-seq
MIRT894647	hsa-miR-1228	CLIP-seq
MIRT894648	hsa-miR-24	CLIP-seq
MIRT894649	hsa-miR-342-3p	CLIP-seq
MIRT894650	hsa-miR-4284	CLIP-seq
MIRT894651	hsa-miR-4466	CLIP-seq
MIRT894652	hsa-miR-4746-3p	CLIP-seq
MIRT894653	hsa-miR-675	CLIP-seq
MIRT894654	hsa-let-7a	CLIP-seq
MIRT894655	hsa-let-7b	CLIP-seq
MIRT894656	hsa-let-7c	CLIP-seq
MIRT894657	hsa-let-7d	CLIP-seq
MIRT894658	hsa-let-7e	CLIP-seq
MIRT894659	hsa-let-7f	CLIP-seq
MIRT894660	hsa-let-7g	CLIP-seq
MIRT894661	hsa-let-7i	CLIP-seq
MIRT894662	hsa-miR-103b	CLIP-seq
MIRT894663	hsa-miR-10a	CLIP-seq
MIRT894664	hsa-miR-10b	CLIP-seq
MIRT894665	hsa-miR-1225-5p	CLIP-seq
MIRT894666	hsa-miR-127-5p	CLIP-seq
MIRT894667	hsa-miR-1292	CLIP-seq
MIRT894668	hsa-miR-1294	CLIP-seq
MIRT894669	hsa-miR-141	CLIP-seq
MIRT894670	hsa-miR-1912	CLIP-seq
MIRT894671	hsa-miR-196a	CLIP-seq
MIRT894672	hsa-miR-196b	CLIP-seq
MIRT894673	hsa-miR-200a	CLIP-seq
MIRT894674	hsa-miR-202	CLIP-seq
MIRT894675	hsa-miR-2052	CLIP-seq
MIRT894676	hsa-miR-2467-3p	CLIP-seq
MIRT894677	hsa-miR-3130-5p	CLIP-seq
MIRT894678	hsa-miR-3136-3p	CLIP-seq
MIRT894679	hsa-miR-3140-3p	CLIP-seq
MIRT894680	hsa-miR-3148	CLIP-seq
MIRT894681	hsa-miR-3156-5p	CLIP-seq
MIRT894682	hsa-miR-326	CLIP-seq
MIRT894683	hsa-miR-330-5p	CLIP-seq
MIRT894684	hsa-miR-338-5p	CLIP-seq
MIRT894685	hsa-miR-3671	CLIP-seq
MIRT894686	hsa-miR-3677-5p	CLIP-seq
MIRT894687	hsa-miR-3688-3p	CLIP-seq
MIRT894688	hsa-miR-383	CLIP-seq
MIRT894689	hsa-miR-3919	CLIP-seq
MIRT894690	hsa-miR-3927	CLIP-seq
MIRT894691	hsa-miR-4257	CLIP-seq
MIRT894692	hsa-miR-4272	CLIP-seq
MIRT894693	hsa-miR-4277	CLIP-seq
MIRT894694	hsa-miR-4316	CLIP-seq
MIRT894695	hsa-miR-4433	CLIP-seq
MIRT894696	hsa-miR-4436b-3p	CLIP-seq
MIRT894697	hsa-miR-4446-5p	CLIP-seq
MIRT894698	hsa-miR-4458	CLIP-seq
MIRT894699	hsa-miR-4459	CLIP-seq
MIRT894700	hsa-miR-4471	CLIP-seq
MIRT894701	hsa-miR-4482	CLIP-seq
MIRT894702	hsa-miR-4500	CLIP-seq
MIRT894703	hsa-miR-4536	CLIP-seq
MIRT894704	hsa-miR-4537	CLIP-seq
MIRT894705	hsa-miR-4648	CLIP-seq
MIRT894706	hsa-miR-4654	CLIP-seq
MIRT894707	hsa-miR-4676-5p	CLIP-seq
MIRT894708	hsa-miR-4677-3p	CLIP-seq
MIRT894709	hsa-miR-4695-5p	CLIP-seq
MIRT894710	hsa-miR-4731-3p	CLIP-seq
MIRT894711	hsa-miR-4761-3p	CLIP-seq
MIRT894712	hsa-miR-4768-3p	CLIP-seq
MIRT894713	hsa-miR-4769-5p	CLIP-seq
MIRT894714	hsa-miR-4772-5p	CLIP-seq
MIRT894715	hsa-miR-4797-5p	CLIP-seq
MIRT894716	hsa-miR-4801	CLIP-seq
MIRT894717	hsa-miR-516a-5p	CLIP-seq
MIRT894718	hsa-miR-539	CLIP-seq
MIRT894719	hsa-miR-575	CLIP-seq
MIRT894720	hsa-miR-582-5p	CLIP-seq
MIRT894721	hsa-miR-607	CLIP-seq
MIRT894722	hsa-miR-616	CLIP-seq
MIRT894723	hsa-miR-648	CLIP-seq
MIRT894724	hsa-miR-663b	CLIP-seq
MIRT894725	hsa-miR-98	CLIP-seq
MIRT1546454	hsa-miR-2355-5p	CLIP-seq
MIRT894679	hsa-miR-3140-3p	CLIP-seq
MIRT894692	hsa-miR-4272	CLIP-seq
MIRT894693	hsa-miR-4277	CLIP-seq
MIRT1546455	hsa-miR-455-3p	CLIP-seq
MIRT1546454	hsa-miR-2355-5p	CLIP-seq
MIRT1546455	hsa-miR-455-3p	CLIP-seq
MIRT1965338	hsa-miR-1253	CLIP-seq
MIRT1965339	hsa-miR-1587	CLIP-seq
MIRT1965340	hsa-miR-204	CLIP-seq
MIRT1965341	hsa-miR-211	CLIP-seq
MIRT894676	hsa-miR-2467-3p	CLIP-seq
MIRT1965342	hsa-miR-3121-5p	CLIP-seq
MIRT894679	hsa-miR-3140-3p	CLIP-seq
MIRT1965343	hsa-miR-3682-5p	CLIP-seq
MIRT894687	hsa-miR-3688-3p	CLIP-seq
MIRT1965344	hsa-miR-378g	CLIP-seq
MIRT1965345	hsa-miR-3978	CLIP-seq
MIRT1965346	hsa-miR-409-5p	CLIP-seq
MIRT1965347	hsa-miR-410	CLIP-seq
MIRT894691	hsa-miR-4257	CLIP-seq
MIRT894692	hsa-miR-4272	CLIP-seq
MIRT1965348	hsa-miR-4276	CLIP-seq
MIRT894693	hsa-miR-4277	CLIP-seq
MIRT1965349	hsa-miR-4428	CLIP-seq
MIRT1965350	hsa-miR-4435	CLIP-seq
MIRT1965351	hsa-miR-4457	CLIP-seq
MIRT894699	hsa-miR-4459	CLIP-seq
MIRT1965352	hsa-miR-4492	CLIP-seq
MIRT1965353	hsa-miR-4498	CLIP-seq
MIRT1965354	hsa-miR-4505	CLIP-seq
MIRT1965355	hsa-miR-4524	CLIP-seq
MIRT894704	hsa-miR-4537	CLIP-seq
MIRT1965356	hsa-miR-4656	CLIP-seq
MIRT1965357	hsa-miR-4675	CLIP-seq
MIRT894709	hsa-miR-4695-5p	CLIP-seq
MIRT1965358	hsa-miR-4741	CLIP-seq
MIRT1965359	hsa-miR-4755-5p	CLIP-seq
MIRT1965360	hsa-miR-4802-3p	CLIP-seq
MIRT1965361	hsa-miR-503	CLIP-seq
MIRT1965362	hsa-miR-513b	CLIP-seq
MIRT894639	hsa-miR-520a-5p	CLIP-seq
MIRT894640	hsa-miR-525-5p	CLIP-seq
MIRT894720	hsa-miR-582-5p	CLIP-seq
MIRT1965363	hsa-miR-587	CLIP-seq
MIRT1965364	hsa-miR-623	CLIP-seq
MIRT1965365	hsa-miR-659	CLIP-seq
MIRT894724	hsa-miR-663b	CLIP-seq
MIRT1965366	hsa-miR-762	CLIP-seq
MIRT1965367	hsa-miR-4418	CLIP-seq
MIRT1965368	hsa-miR-4503	CLIP-seq
MIRT1965369	hsa-miR-509-3-5p	CLIP-seq
MIRT1965370	hsa-miR-509-5p	CLIP-seq
MIRT2201286	hsa-miR-1237	CLIP-seq
MIRT2201287	hsa-miR-3119	CLIP-seq
MIRT2201288	hsa-miR-3124-3p	CLIP-seq
MIRT1965356	hsa-miR-4656	CLIP-seq
MIRT2201289	hsa-miR-4756-3p	CLIP-seq
MIRT894639	hsa-miR-520a-5p	CLIP-seq
MIRT894640	hsa-miR-525-5p	CLIP-seq
MIRT2201290	hsa-miR-1293	CLIP-seq
MIRT894676	hsa-miR-2467-3p	CLIP-seq
MIRT2201291	hsa-miR-3165	CLIP-seq
MIRT2201292	hsa-miR-3689a-3p	CLIP-seq
MIRT2201293	hsa-miR-3689c	CLIP-seq
MIRT894691	hsa-miR-4257	CLIP-seq
MIRT2201294	hsa-miR-448	CLIP-seq
MIRT2201295	hsa-miR-4483	CLIP-seq
MIRT894704	hsa-miR-4537	CLIP-seq
MIRT2201296	hsa-miR-548aa	CLIP-seq
MIRT894720	hsa-miR-582-5p	CLIP-seq
MIRT2201297	hsa-miR-890	CLIP-seq
MIRT2386122	hsa-miR-1224-3p	CLIP-seq
MIRT2386123	hsa-miR-1260	CLIP-seq
MIRT2386124	hsa-miR-1260b	CLIP-seq
MIRT2386125	hsa-miR-1273f	CLIP-seq
MIRT2386126	hsa-miR-1280	CLIP-seq
MIRT2201290	hsa-miR-1293	CLIP-seq
MIRT894619	hsa-miR-15a	CLIP-seq
MIRT894620	hsa-miR-15b	CLIP-seq
MIRT894621	hsa-miR-16	CLIP-seq
MIRT894622	hsa-miR-195	CLIP-seq
MIRT2386127	hsa-miR-2114	CLIP-seq
MIRT2386128	hsa-miR-299-5p	CLIP-seq
MIRT2386129	hsa-miR-3122	CLIP-seq
MIRT894679	hsa-miR-3140-3p	CLIP-seq
MIRT2386130	hsa-miR-3652	CLIP-seq
MIRT2201292	hsa-miR-3689a-3p	CLIP-seq
MIRT2201293	hsa-miR-3689c	CLIP-seq
MIRT2386131	hsa-miR-3913-5p	CLIP-seq
MIRT894633	hsa-miR-424	CLIP-seq
MIRT894692	hsa-miR-4272	CLIP-seq
MIRT894693	hsa-miR-4277	CLIP-seq
MIRT2386132	hsa-miR-4292	CLIP-seq
MIRT2386133	hsa-miR-4303	CLIP-seq
MIRT2386134	hsa-miR-4308	CLIP-seq
MIRT1965367	hsa-miR-4418	CLIP-seq
MIRT2386135	hsa-miR-4430	CLIP-seq
MIRT2201295	hsa-miR-4483	CLIP-seq
MIRT2386136	hsa-miR-4640-5p	CLIP-seq
MIRT2386137	hsa-miR-4682	CLIP-seq
MIRT2386138	hsa-miR-4726-5p	CLIP-seq
MIRT2386139	hsa-miR-4728-5p	CLIP-seq
MIRT2386140	hsa-miR-4802-5p	CLIP-seq
MIRT894638	hsa-miR-497	CLIP-seq
MIRT1965369	hsa-miR-509-3-5p	CLIP-seq
MIRT1965370	hsa-miR-509-5p	CLIP-seq
MIRT2386141	hsa-miR-627	CLIP-seq
MIRT2386142	hsa-miR-670	CLIP-seq
MIRT2386143	hsa-miR-885-3p	CLIP-seq
MIRT2201297	hsa-miR-890	CLIP-seq
MIRT2386144	hsa-miR-924	CLIP-seq
MIRT2386145	hsa-miR-933	CLIP-seq
MIRT2427339	hsa-miR-21	CLIP-seq
MIRT2427340	hsa-miR-590-5p	CLIP-seq
MIRT2427339	hsa-miR-21	CLIP-seq
MIRT2427340	hsa-miR-590-5p	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT894675	hsa-miR-2052	CLIP-seq
MIRT894680	hsa-miR-3148	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894631	hsa-miR-3622b-5p	CLIP-seq
MIRT894687	hsa-miR-3688-3p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT2386125	hsa-miR-1273f	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT2201290	hsa-miR-1293	CLIP-seq
MIRT2386129	hsa-miR-3122	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894631	hsa-miR-3622b-5p	CLIP-seq
MIRT2201292	hsa-miR-3689a-3p	CLIP-seq
MIRT2201293	hsa-miR-3689c	CLIP-seq
MIRT2386131	hsa-miR-3913-5p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT2201295	hsa-miR-4483	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT2386139	hsa-miR-4728-5p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT894618	hsa-miR-1285	CLIP-seq
MIRT894627	hsa-miR-3187-5p	CLIP-seq
MIRT894631	hsa-miR-3622b-5p	CLIP-seq
MIRT894632	hsa-miR-3945	CLIP-seq
MIRT894634	hsa-miR-4253	CLIP-seq
MIRT894637	hsa-miR-4684-5p	CLIP-seq
MIRT2678233	hsa-miR-4699-5p	CLIP-seq
MIRT2678234	hsa-miR-4709-3p	CLIP-seq
MIRT894641	hsa-miR-548c-3p	CLIP-seq
MIRT894644	hsa-miR-612	CLIP-seq
MIRT894691	hsa-miR-4257	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
TFAP4	Unknown	15086899

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003014	Process	Renal system process	IMP	8559248
GO:0005247	Function	Voltage-gated chloride channel activity	IBA
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	IMP	8559248
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	19940036
GO:0005524	Function	ATP binding	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IBA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IMP	8559248
GO:0006897	Process	Endocytosis	IEA
GO:0008021	Component	Synaptic vesicle	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015297	Function	Antiporter activity	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	14675051
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0042802	Function	Identical protein binding	IPI	17195847
GO:0045177	Component	Apical part of cell	IDA	14675051
GO:0045177	Component	Apical part of cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
300008	2023	ENSG00000171365

P51795

Protein name

H(+)/Cl(-) exchange transporter 5 (Chloride channel protein 5) (ClC-5) (Chloride transporter ClC-5)

Protein function

Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons (PubMed:20466723). Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. The

PDB

2J9L , 2JA3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00654	Voltage_CLC	149 → 551	Voltage gated chloride channel	Family
PF00571	CBS	582 → 646	CBS domain	Domain
PF00571	CBS	679 → 734	CBS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Kidney. Moderately expressed in aortic vascular smooth muscle and endothelial cells, and at a slightly higher level in the coronary vascular smooth muscle. {ECO:0000269|PubMed:10198195}.

Sequence

MAMWQGAMDNRGFQQGSFSSFQNSSSDEDLMDIPATAMDFSMRDDVPPLDREVGEDKSYN
GGGIGSSNRIMDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHS
VSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTF
EERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGI
PEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFN
KYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF
TLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTT
QLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTS
KGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLG
VGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTG
GLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRR
NDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKK
QDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQ
CLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN

Sequence length

816

Interactions

View interactions

	KEGG		Reactome
	Neutrophil extracellular trap formation		Stimuli-sensing channels

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CLCN5-related disorder	Likely pathogenic; Pathogenic	rs797044808, rs151340626, rs2519444688, rs2519445104	RCV003417691 RCV003398487 RCV003397449 RCV003393020	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dent disease	Pathogenic	rs797044813	RCV003401037	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dent disease type 1	Pathogenic; Likely pathogenic	rs2147594126, rs2147582103, rs2147594243, rs782720805, rs2147605760, rs2147596542, rs2147606263, rs2519435022, rs797044808, rs797044810, rs797044811, rs797044812, rs797044813, rs797044814, rs797044815 View all (44 more)	RCV001580334 RCV001580335 RCV001814743 RCV001843320 RCV001849668 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial X-linked hypophosphatemic vitamin D refractory rickets	Likely pathogenic; Pathogenic	rs797044808	RCV004546452	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperkalemia	Likely pathogenic	rs1557194090	RCV000626586	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypophosphatemic rickets, X-linked recessive	Likely pathogenic; Pathogenic	rs2147594243, rs797044808, rs797044810, rs797044812, rs797044813, rs797044814, rs151340626, rs151340627, rs2519422486, rs2519440480, rs1557194353, rs1049618423, rs1933891368, rs1933713383, rs1933979876	RCV001814743 RCV006249605 RCV005042406 RCV005049467 RCV002478667 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Low-molecular-weight proteinuria	Likely pathogenic	rs1557194090	RCV000626586	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple small medullary renal cysts	Likely pathogenic	rs1557194090	RCV000626586	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Pathogenic; Likely pathogenic	rs1933652537, rs1933713383	RCV001328282 RCV001328283	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	Likely pathogenic; Pathogenic	rs2147594243, rs2147606263, rs797044808, rs797044810, rs797044812, rs797044813, rs797044814, rs151340620, rs151340626, rs151340627, rs1569540520, rs151340628, rs2519434988, rs2519422486, rs2519440480 View all (6 more)	RCV001814743 RCV002251020 RCV006249605 RCV005042406 RCV005049467 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs797044810, rs1933378481	RCV005892209 RCV005909310	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked recessive nephrolithiasis with renal failure	Likely pathogenic; Pathogenic	rs2147594243, rs797044808, rs797044810, rs797044812, rs797044813, rs797044814, rs151340625, rs151340626, rs151340627, rs151340629, rs2519422486, rs2519440480, rs1557194353, rs1049618423, rs1933891368, rs1933713383, rs1933979876 View all (2 more)	RCV001814743 RCV006249605 RCV005042406 RCV005049467 RCV002478667 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bethlem myopathy 1A	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENT DISEASE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPOPHOSPHATEMIC RICKETS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (111)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Rickets	Rickets	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	31364286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	30405442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	25792359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35651328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	16247550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27699523, 31054069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25909590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	29338612		★★★★★ ★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	BEFREE	17384968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dent Disease	Dent disease	Pubtator	10469281, 10620205, 10916075, 12631345, 15086899, 15140760, 16686597, 17982249, 18480301, 19019917, 22441187, 23047739, 23572577, 24398869, 27117801 View all (21 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dent disease 1	Dent`s Disease	CLINVAR_DG	10469281, 11136179, 12637640, 15086899, 15719255, 15895257, 16822791, 16861240, 18038239, 18184518, 19076289, 19546586, 19546591, 19657328, 19806368 View all (6 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent disease 1	Dent`s Disease	UNIPROT_DG	15086899, 16247550, 16416111, 16822791, 17262170, 18025833, 19019917, 19657328, 21305656, 8559248, 9187673, 9259268, 9602200, 9853249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent disease 1	Dent`s Disease	BEFREE	18038239, 20946626, 24912603, 25907713, 27699523, 29791050, 30405442, 30852663		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent disease 1	Dent`s Disease	ORPHANET_DG	18540256, 21305656		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent disease 1	Dent`s Disease	GENOMICS_ENGLAND_DG	23886564		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent disease 1	Dent disease	Pubtator	27117801, 27174143, 29084614, 30852663, 32201916, 32393202, 33107589, 33430795, 33600050, 37356184, 38256038, 9893114	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent disease 1	Dent`s Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent Disease 2	Dent disease	Pubtator	23047739, 34547705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dent disease type 1	Dent`s Disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dent disease type 1	Dent`s Disease	BEFREE	30852663, 31472005		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dent`s disease	Dent`s Disease	CTD_human_DG	10561751, 15719255, 20804101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dent`s disease	Dent`s Disease	CLINVAR_DG	10906159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dent`s disease	Dent`s Disease	GENOMICS_ENGLAND_DG	308990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23029130	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23029130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30630535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	22695891, 28383812		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	9452997	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	BEFREE	17384968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	15140760, 33430795, 37641036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	17384968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CTD_human_DG	12843258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	12843258	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	Pubtator	32019767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	23029130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	22735364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30630535, 32393202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	11984501, 23572577, 33600050, 38267993, 39582457, 9328929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalciuria Absorptive 2	Hypercalciuria	Pubtator	15692680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	22695891, 28383812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	UNIPROT_DG	21305656, 8559248		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	GENOMICS_ENGLAND_DG	23886564, 9187673		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	10620204, 9519207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18942765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30630535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30630535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	18942765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	20680351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	10373326, 10620204, 10916075, 11261675, 11262581, 12444212, 12746443, 14673707, 15086899, 17872384, 18446382, 18853181, 19546591, 8575751, 9187673 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11053039, 20049483, 23029130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	16686597, 23029130, 36408280, 36674829, 37248651, 37641036, 9734595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	10916075, 20049483, 21927812, 23572577, 9452997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	12631345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	16247550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	UNIPROT_DG	11136179, 19019917, 9062355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	GENOMICS_ENGLAND_DG	23886564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	Proteinuria	Pubtator	32393202, 9328927, 9893114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	12843258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	23029130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30630535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	12843258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28899456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28899456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple small medullary renal cysts	Multiple small medullary renal cysts	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephritis, Interstitial	Nephritis	BEFREE	30852663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	30852663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	15052463, 15719255, 9062355, 9328929, 9596078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	10373326, 10620204, 10916075, 11261675, 11262581, 12444212, 12746443, 14673707, 15086899, 17872384, 18446382, 18853181, 19546591, 8575751, 9187673 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	10916075, 11984501, 23572577, 29756720, 40428323, 9734595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	24398869	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	17162149, 24081861, 25485598, 27757584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	Pubtator	30101934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32393202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	9519207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	11984501, 15692680, 16686597, 17982249, 23029130, 23572577, 24398869, 29084614, 30852663, 32019767, 32393202, 32495484, 33430795, 33600050, 37641036, 38256038, 38267993, 9328929, 9653142 View all (4 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychomotor Disorders	Psychiatric disorders	Pubtator	30630535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31054069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	30852663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	8575751, 9062355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	17872384, 18446382, 27174143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	Pubtator	27174143, 9734595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets Hypophosphatemic	Hypophosphatemic rickets	Pubtator	22695891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	20680351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	32393202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked recessive nephrolithiasis with renal failure	Nephrolithiasis With Renal Failure, X-Linked	BEFREE	11261675, 9811383		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked recessive nephrolithiasis with renal failure	Nephrolithiasis With Renal Failure, X-Linked	ORPHANET_DG	18540256, 21305656		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked recessive nephrolithiasis with renal failure	Nephrolithiasis With Renal Failure, X-Linked	GENOMICS_ENGLAND_DG	23886564		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked recessive nephrolithiasis with renal failure	Nephrolithiasis With Renal Failure, X-Linked	UNIPROT_DG	8559248		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked recessive nephrolithiasis with renal failure	Nephrolithiasis With Renal Failure, X-Linked	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

CLCN5 (chloride voltage-gated channel 5)